Incidental Mutation 'R8432:Psma1'
ID 653805
Institutional Source Beutler Lab
Gene Symbol Psma1
Ensembl Gene ENSMUSG00000030751
Gene Name proteasome subunit alpha 1
Synonyms C2, Pros-30, HC2
MMRRC Submission 067882-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.680) question?
Stock # R8432 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 113863841-113875353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113873080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 74 (I74N)
Ref Sequence ENSEMBL: ENSMUSP00000033008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033008] [ENSMUST00000135570]
AlphaFold Q9R1P4
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000033008
AA Change: I74N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033008
Gene: ENSMUSG00000030751
AA Change: I74N

DomainStartEndE-ValueType
Proteasome_A_N 6 28 6.32e-8 SMART
Pfam:Proteasome 29 215 3.2e-54 PFAM
low complexity region 243 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135570
AA Change: I49N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 A G 9: 122,197,317 (GRCm39) Y168C probably damaging Het
Agbl1 A C 7: 76,774,434 (GRCm39) R1119S unknown Het
Agpat5 A T 8: 18,896,777 (GRCm39) N68Y probably benign Het
Ap4b1 G A 3: 103,728,135 (GRCm39) R551Q probably benign Het
Arhgef28 T C 13: 98,088,091 (GRCm39) I1122V probably benign Het
Arhgef40 T A 14: 52,226,857 (GRCm39) D300E probably benign Het
Atxn7 T C 14: 14,013,635 (GRCm38) V112A probably benign Het
AY358078 T A 14: 52,059,635 (GRCm39) L324H unknown Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bnip5 C T 17: 29,118,545 (GRCm39) R629H probably benign Het
Cacng2 A G 15: 77,897,522 (GRCm39) Y96H probably damaging Het
Cd2ap A T 17: 43,109,484 (GRCm39) probably null Het
Cdh5 A T 8: 104,839,698 (GRCm39) E56D probably damaging Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Cpne3 A T 4: 19,535,227 (GRCm39) S268R probably benign Het
Cubn T A 2: 13,386,610 (GRCm39) I1552F probably benign Het
Dhrs7 G A 12: 72,711,581 (GRCm39) probably benign Het
Dnah7a G C 1: 53,657,195 (GRCm39) I860M possibly damaging Het
Dync1h1 A T 12: 110,584,576 (GRCm39) M660L probably benign Het
Ecd T A 14: 20,370,998 (GRCm39) T574S probably benign Het
Efna5 A G 17: 62,958,017 (GRCm39) Y80H probably damaging Het
Ercc5 A T 1: 44,206,841 (GRCm39) K585* probably null Het
Erich4 A G 7: 25,314,533 (GRCm39) S127P probably benign Het
Gckr A T 5: 31,466,447 (GRCm39) Q474L possibly damaging Het
Gid8 A G 2: 180,356,654 (GRCm39) N97S probably benign Het
Gm28042 G T 2: 119,869,077 (GRCm39) C557F probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Gzf1 A G 2: 148,532,115 (GRCm39) T581A probably benign Het
Heatr5b A T 17: 79,110,930 (GRCm39) Y973N probably damaging Het
Herc2 A G 7: 55,804,860 (GRCm39) E2296G probably benign Het
Hydin A T 8: 111,324,583 (GRCm39) N4648I probably benign Het
Mlip A T 9: 77,098,011 (GRCm39) D157E possibly damaging Het
Mrpl19 A G 6: 81,939,136 (GRCm39) V222A probably damaging Het
Myo18b A G 5: 112,912,378 (GRCm39) V1896A probably benign Het
Myo9a G A 9: 59,687,548 (GRCm39) V218M probably damaging Het
Nepn A T 10: 52,267,880 (GRCm39) T49S probably benign Het
Nsd1 T G 13: 55,395,516 (GRCm39) M1142R possibly damaging Het
Or52e8 T G 7: 104,625,199 (GRCm39) T2P probably benign Het
Or8b40 A G 9: 38,027,272 (GRCm39) Y65C probably damaging Het
Otulinl A T 15: 27,664,818 (GRCm39) M46K possibly damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Pgm2l1 A G 7: 99,909,260 (GRCm39) D242G possibly damaging Het
Pkdrej T G 15: 85,701,494 (GRCm39) I1481L probably benign Het
Prkag1 T C 15: 98,713,425 (GRCm39) I87V possibly damaging Het
Rap1gds1 T C 3: 138,647,548 (GRCm39) S547G probably damaging Het
Rbm19 T G 5: 120,313,991 (GRCm39) F868V probably damaging Het
Riok1 T C 13: 38,221,468 (GRCm39) V11A probably benign Het
Smpd3 T A 8: 106,984,309 (GRCm39) probably null Het
Taar3 A T 10: 23,826,053 (GRCm39) I200L probably benign Het
Taf12 A G 4: 132,019,228 (GRCm39) Y139C probably damaging Het
Taf15 AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG AGAAGTGG 11: 83,395,851 (GRCm39) probably benign Het
Tc2n A T 12: 101,615,363 (GRCm39) N487K probably benign Het
Tex15 A C 8: 34,066,572 (GRCm39) I2001L probably damaging Het
Tmem168 A G 6: 13,602,535 (GRCm39) F277S probably benign Het
Trim67 TGCCGCCGCCGCCGC TGCCGCCGCCGC 8: 125,520,801 (GRCm39) probably benign Het
Tspan1 G T 4: 116,021,151 (GRCm39) Q116K probably benign Het
Ttc24 G A 3: 87,977,366 (GRCm39) R325C probably benign Het
Ttn C T 2: 76,693,900 (GRCm39) E323K Het
Xirp2 A T 2: 67,340,962 (GRCm39) M1068L probably benign Het
Zbtb38 A C 9: 96,568,291 (GRCm39) M931R possibly damaging Het
Zfp931 A G 2: 177,711,346 (GRCm39) *65Q probably null Het
Other mutations in Psma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03001:Psma1 APN 7 113,865,674 (GRCm39) missense probably benign 0.01
tempt UTSW 7 113,873,683 (GRCm39) missense probably damaging 1.00
R0046:Psma1 UTSW 7 113,866,440 (GRCm39) splice site probably benign
R0046:Psma1 UTSW 7 113,866,440 (GRCm39) splice site probably benign
R2062:Psma1 UTSW 7 113,869,001 (GRCm39) missense possibly damaging 0.95
R2217:Psma1 UTSW 7 113,864,173 (GRCm39) missense unknown
R4633:Psma1 UTSW 7 113,870,369 (GRCm39) missense probably damaging 1.00
R5585:Psma1 UTSW 7 113,873,302 (GRCm39) missense probably damaging 1.00
R6357:Psma1 UTSW 7 113,873,602 (GRCm39) splice site probably null
R7137:Psma1 UTSW 7 113,873,683 (GRCm39) missense probably damaging 1.00
R7592:Psma1 UTSW 7 113,868,961 (GRCm39) missense probably benign
R9049:Psma1 UTSW 7 113,865,764 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTTCATACTCAAACCCACTAAGG -3'
(R):5'- GCAAGGTTCAGCAACAGTTG -3'

Sequencing Primer
(F):5'- CCAATACTGGGGGAATCTAATGTC -3'
(R):5'- GGTGAGTGAAATATAACCCTGTCTTC -3'
Posted On 2020-10-20